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rs121908808

From SNPedia

Cystic Fibrosis related
Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;T) 3 carrier of a cystic fibrosis allele
Make rs121908808(-;-)
Make rs121908808(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position117652852
GeneCFTR
is asnp
is mentioned by
dbSNPrs121908808
ebirs121908808
HLIrs121908808
Exacrs121908808
Varsomers121908808
Maprs121908808
PheGenIrs121908808
hapmaprs121908808
1000 genomesrs121908808
hgdprs121908808
ensemblrs121908808
gopubmedrs121908808
geneviewrs121908808
scholarrs121908808
googlers121908808
pharmgkbrs121908808
gwascentralrs121908808
openSNPrs121908808
23andMers121908808
23andMe allrs121908808
SNP Nexus

SNPshotrs121908808
SNPdbers121908808
MSV3drs121908808
GWAS Ctlgrs121908808
Max Magnitude3

Cystic fibrosis; c.3884_3885insT, p.Ser1297Phefs

named i5012070 by 23andMe

ClinVar
Risk rs121908808(T;T)
Alt rs121908808(T;T)
Reference rs121908808(;)
Significance Pathogenic
Disease Cystic fibrosis
Variation info
Gene CFTR
CLNDBN Cystic fibrosis
Reversed 0
HGVS NC_000007.13:g.117292911dupT
CLNSRC CFTR2
CLNACC RCV000047018.4,


[PMID 12007216] Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.